Sanjiv K Bhalla
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View article: Identification of Compound Heterozygous <i>CYP11A1</i> Variants via Reanalysis of Clinical Sequencing Data
Identification of Compound Heterozygous <i>CYP11A1</i> Variants via Reanalysis of Clinical Sequencing Data Open
A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defin…